{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Marttila M"],"funding":["NICHD NIH HHS","NIAMS NIH HHS"],"pagination":["a004184"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6672024"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["5(4)"],"pubmed_abstract":["Next-generation sequencing has led to transformative advances in our ability to diagnose rare diseases by simultaneously sequencing dozens, hundreds, or even entire genomes worth of genes to efficiently identify pathogenic mutations. These studies amount to multiple hypothesis testing on a massive scale and not infrequently lead to discovery of multiple genetic variants whose relative contributions to a patient's disease are unclear. Panel testing, in particular, can be problematic because each of the many genes being sequenced might represent a plausible explanation for a given case. We performed targeted gene panel analysis of 43 established neuromuscular disease genes in a patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Initial review of varia"],"journal":["Cold Spring Harbor molecular case studies"],"pubmed_title":["<i>MYL2</i>-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing."],"pmcid":["PMC6672024"],"funding_grant_id":["R01 AR044345","R01 HD075802","U54 HD090255"],"pubmed_authors":["Beggs AH","Marttila M","Abdel-Hamid HZ","Win W","Lacomis D","Al-Ghamdi F"],"additional_accession":[]},"is_claimable":false,"name":"<i>MYL2</i>-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.","description":"Next-generation sequencing has led to transformative advances in our ability to diagnose rare diseases by simultaneously sequencing dozens, hundreds, or even entire genomes worth of genes to efficiently identify pathogenic mutations. These studies amount to multiple hypothesis testing on a massive scale and not infrequently lead to discovery of multiple genetic variants whose relative contributions to a patient's disease are unclear. Panel testing, in particular, can be problematic because each of the many genes being sequenced might represent a plausible explanation for a given case. We performed targeted gene panel analysis of 43 established neuromuscular disease genes in a patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Initial review of varia","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Aug","modification":"2026-05-13T16:08:58.647Z","creation":"2019-08-20T07:01:55Z"},"accession":"S-EPMC6672024","cross_references":{"pubmed":["31127036"],"doi":["10.1101/mcs.a004184"]}}